Butyrylcholinesterase deficiency

Definition:

Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BCHED are possibly in danger of postanesthetic apnea.

References:

[1]. Herve Delacour, et al. Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium. Biochem Pharmacol. 2014 Dec 1;92(3):476-83. [Content Brief]

[2]. Rentao Yu, et al. A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report. BMC Med Genet. 2018 Apr 10;19(1):58. [Content Brief]

[3]. Tina Yen, et al. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003 Aug;49(8):1297-308. [Content Brief]

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